CCK — 13 ClinVar variants
All ClinVar germline CCK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 11 flagged for review →
2 Likely benign · 11 Uncertain significance
Full CCK gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 11
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCK p.Arg106Cys Uncertain significance Single submitter
- CCK p.Arg106His Uncertain significance Single submitter
- CCK p.Arg76Gln Uncertain significance Single submitter
- CCK p.Arg95Gln Uncertain significance Single submitter
- CCK p.Glu109Lys Uncertain significance Single submitter
- CCK p.Gly104Ala Uncertain significance Single submitter
- CCK p.Ser115Ala Uncertain significance Single submitter
- CCK p.Ser47Pro Uncertain significance Single submitter
- CCK p.Val5Ala Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All CCK variants
Likely benign 2
- p.Arg35Gln Single submitter
- p.Ile79Val Single submitter
Uncertain significance 11
- p.Arg106Cys Single submitter ⚠
- p.Arg106His Single submitter ⚠
- p.Arg70Gly Single submitter ⚠
- p.Arg76Gln Single submitter ⚠
- p.Arg95Gln Single submitter ⚠
- p.Glu109Lys Single submitter ⚠
- p.Gly104Ala Single submitter ⚠
- p.Ser115Ala Single submitter ⚠
- p.Ser47Pro Single submitter ⚠
- p.Val13Ile Single submitter ⚠
- p.Val5Ala Single submitter ⚠